A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9945256



Internal ID6570549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59640577..59641432hg38UCSC Ensembl
Innerchr1:59640578..59641431hg38UCSC Ensembl
Outerchr1:59640576..59641433hg38UCSC Ensembl
chr1:60106249..60107104hg19UCSC Ensembl
Innerchr1:60106250..60107103hg19UCSC Ensembl
Outerchr1:60106248..60107105hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586190
Supporting Variants
SamplesHG01684
Known GenesFGGY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9945256
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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